Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Elisabetta Bucci"'
Autor:
Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective co
Externí odkaz:
https://doaj.org/article/61de057bf13d4fb78dcd7f9489634400
Autor:
Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. A
Externí odkaz:
https://doaj.org/article/1f77ff0f42694a7eb9d9729bb0e05731
Autor:
Laura Serra, Mara Cercignani, Michela Bruschini, Lisa Cipolotti, Matteo Mancini, Gabriella Silvestri, Antonio Petrucci, Elisabetta Bucci, Giovanni Antonini, Loretta Licchelli, Barbara Spanò, Manlio Giacanelli, Carlo Caltagirone, Giovanni Meola, Marco Bozzali
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0156901 (2016)
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on for
Externí odkaz:
https://doaj.org/article/f9065e1ea98d4f5695f4834cc9a78bc4
Autor:
Antonio Lauletta, Laura Fionda, Gioia Merlonghi, Luca Leonardi, Stefania Morino, Elisabetta Bucci, Laura Tufano, Girolamo Alfieri, Rocco Costanzo, Elena Rossini, Marco Salvetti, Giovanni Antonini, Matteo Garibaldi
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.
Myasthenia gravis-inflammatory myopathy (MG-IM) association has been rarely reported as specific clinical entity characterized by variable myositis manifestations, ranging from subclinical to diffuse muscle involvement with characteristic distal uppe
Autor:
Laura Fionda, Marco Salvetti, Antonio Lauletta, Girolamo Alfieri, Antonella Di Pasquale, Stefania Morino, Matteo Garibaldi, Giovanni Antonini, Luca Leonardi, Fiammetta Vanoli, Elisabetta Bucci, Simona Loreti
Publikováno v:
Journal of Neurology. 268:3011-3019
To evaluate, in a prospective study, high-resolution ultrasound (HRUS) changes of nerve segments in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and their relationships with clinical and electrodiagnostic (EDX) characteristics. Tw
Autor:
Enrico Bertini, Elisabetta Bucci, Giovanni Antonini, Luca Leonardi, Marco Salvetti, Bas Uijterwijk, Antonella Stoppacciaro, Martijn Zierikzee, Salvatore Raffa, Fiammetta Vanoli, Tommaso Tartaglione, Laura Fionda, Elena Maria Pennisi, Gioia Merlonghi, Fabiana Fattori, Coen A.C. Ottenheijm, Matteo Garibaldi, Stefania Morino, Andrea Micaloni
Publikováno v:
Garibaldi, M, Fattori, F, Pennisi, E M, Merlonghi, G, Fionda, L, Vanoli, F, Leonardi, L, Bucci, E, Morino, S, Micaloni, A, Tartaglione, T, Uijterwijk, B, Zierikzee, M, Ottenheijm, C, Bertini, E S, Stoppacciaro, A, Raffa, S, Salvetti, M & Antonini, G 2021, ' Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores ', Neuromuscular Disorders, vol. 31, no. 2, pp. 139-148 . https://doi.org/10.1016/j.nmd.2020.11.012
Neuromuscular Disorders, 31(2), 139-148. Elsevier Limited
Neuromuscular Disorders, 31(2), 139-148. Elsevier Limited
ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion. We report
Autor:
Salvatore Rossi, Matteo Garibaldi, Gary Cutter, Stefania Morino, Elisabetta Bucci, Marco Salvetti, Enzo Ricci, Antonio Petrucci, Elena Maria Pennisi, Alessia Perna, Gioia Merlonghi, Jordi Díaz-Manera, Girolamo Alfieri, Giovanni Antonini, Luca Leonardi, Antonio Lauletta, Laura Tufano, Gabriella Silvestri, Laura Fionda, Tommaso Tartaglione, Tommaso Nicoletti
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b163935497777bc81c8081c83ca80f1
http://hdl.handle.net/10807/196370
http://hdl.handle.net/10807/196370
Autor:
Giovanni Antonini, Luca Leonardi, Gioia Merlonghi, Marco Testa, Matteo Garibaldi, Antonio Lauletta, Laura Fionda, Girolamo Alfieri, Elisabetta Bucci, Stefania Morino, Laura Tufano, Marco Salvetti, Paolo Anibaldi, Fiammetta Vanoli
Publikováno v:
European journal of neurologyREFERENCES. 28(4)
Background and purpose Cardiac involvement is observed in about 80% of subjects with myotonic dystrophy type 1 (DM1) and is mainly characterized by cardiac conduction and/or rhythm abnormalities (CCRAs), possibly leading to sudden cardiac death (SCD)
Autor:
Gabriele Siciliano, Giovanni Antonini, Stefano C. Previtali, Silvia Tripodi, Francesco Sera, Maria Antonietta Maioli, Marina Scarlato, Giuliano Tomelleri, Fabiano Mele, Angela Berardinelli, Tiziana Mongini, Corrado Angelini, Liliana Vercelli, Luisa Villa, Elisabetta Bucci, Maria Grazia D'Angelo, Lucio Santoro, Lorenzo Maggi, Rachele Piras, Giulia Ricci, Maurizio Moggio, Roberta Telese, Antonio Di Muzio, Elena Pegoraro, Massimiliano Filosto, Monica Govi, Lucia Ruggiero, Carmelo Rodolico, Cinzia Bettio, Rossella Tupler
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports
Scientific Reports
Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ccf4bfb92dfb033cc222e478de4938
http://hdl.handle.net/2318/1785955
http://hdl.handle.net/2318/1785955
Autor:
Elisabetta Bucci, Giovanni Antonini, A. Anzuini, M A Papassifachis, A. Semeraro, Andrea Lenzi, Antonio F. Radicioni, Carlotta Pozza, Matteo Garibaldi, Matteo Spaziani, Fabio Rossi
Publikováno v:
Journal of endocrinological investigation. 43(5)
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG expansion in the DMPK gene. The aim was to investigate the endocrine and metabolic aspects of DM1. Retrospective, case–control study. We compared pituitary, thyroid, adrenal, gonad